L57R (p.Leu57Arg) variant of TSHR (Thyrotropin receptor)
L57R (p.Leu57Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L57R (p.Leu57Arg) variant details
- p.Leu57Arg
- gnomAD 14-80955850-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.73
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available